-
1
-
-
0027426276
-
Maternal uniparental disomy for human chromosome 14, due to a loss of a chromosome 14 from somatic cells with t(13/14) trisomy 14
-
Antonarakis SE, Blouin J-L, Maher J, Avramopoulos D, Thomas G, Talbot CC (1993) Maternal uniparental disomy for human chromosome 14, due to a loss of a chromosome 14 from somatic cells with t(13/14) trisomy 14. Am J Hum Genet 52:1145-1152
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1145-1152
-
-
Antonarakis, S.E.1
Blouin, J.-L.2
Maher, J.3
Avramopoulos, D.4
Thomas, G.5
Talbot, C.C.6
-
2
-
-
19944384276
-
Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty
-
Aretz S, Raff R, Woelfle J, Zerres K, Esser M, Propping P, Eggermann T (2005) Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty. Am J Med Genet 135A:336-338
-
(2005)
Am J Med Genet
, vol.135
, pp. 336-338
-
-
Aretz, S.1
Raff, R.2
Woelfle, J.3
Zerres, K.4
Esser, M.5
Propping, P.6
Eggermann, T.7
-
3
-
-
0000909603
-
Further evidence for an emerging maternal uniparental disomy chromosome 14 syndrome: Analysis of a phenotypically abnormal de novo Robertsonian translocation t(13;14) carrier
-
Suppl
-
Barton DE, McQuaid S, Stallings R, Griffin E, Geraghty M (1996) Further evidence for an emerging maternal uniparental disomy chromosome 14 syndrome: analysis of a phenotypically abnormal de novo Robertsonian translocation t(13;14) carrier. Am J Hum Genet 59:Suppl:687
-
(1996)
Am J Hum Genet
, vol.59
, pp. 687
-
-
Barton, D.E.1
McQuaid, S.2
Stallings, R.3
Griffin, E.4
Geraghty, M.5
-
4
-
-
0033531969
-
Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype
-
Berend MJW, Hordijk R, Oosterwijk JC, Halley DJJ, Sorgedrager N (1999) Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype. Am J Med Genet 84:76-79
-
(1999)
Am J Med Genet
, vol.84
, pp. 76-79
-
-
Berend, M.J.W.1
Hordijk, R.2
Oosterwijk, J.C.3
Halley, D.J.J.4
Sorgedrager, N.5
-
5
-
-
0344541708
-
Clinical and molecular findings in two patients with Russell Silver syndrome and UPD7
-
Bernard LE, Penaherrera MS, Van Allen MI, Wang MS, Yong S-L, Gareis F, Langlois S, Robinson WP (1999) Clinical and molecular findings in two patients with Russell Silver syndrome and UPD7. Am J Med Genet 87:230-236
-
(1999)
Am J Med Genet
, vol.87
, pp. 230-236
-
-
Bernard, L.E.1
Penaherrera, M.S.2
Van Allen, M.I.3
Wang, M.S.4
Yong, S.-L.5
Gareis, F.6
Langlois, S.7
Robinson, W.P.8
-
6
-
-
11344285560
-
Russell-Silver syndrome: Molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping
-
10
-
Chou YY, Chen CC, Kuo PL, Tsai WH, Lin SJ (2004) Russell-Silver syndrome: molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping. J Formos Med Assoc 103(10):797-802
-
(2004)
J Formos Med Assoc
, vol.103
, pp. 797-802
-
-
Chou, Y.Y.1
Chen, C.C.2
Kuo, P.L.3
Tsai, W.H.4
Lin, S.J.5
-
7
-
-
0028574706
-
Growth charts for both cross-sectional and longitudinal data
-
Cole TJ (1994) Growth charts for both cross-sectional and longitudinal data. Stat Med 13:2477-2492
-
(1994)
Stat Med
, vol.13
, pp. 2477-2492
-
-
Cole, T.J.1
-
9
-
-
3142687470
-
Maternal UPD(14) in the patient with a normal karyotype: Clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome
-
Cox H, Bullman H, Temple IK (2004) Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome. Am J Med Genet 127:21-25
-
(2004)
Am J Med Genet
, vol.127
, pp. 21-25
-
-
Cox, H.1
Bullman, H.2
Temple, I.K.3
-
10
-
-
0000106787
-
Maternal uniparental disomy for chromosome 14
-
Suppl
-
Desilets VA, Yong SL, Kalousek DK, Pantzar TJ, Kwong LC, Siemens C, Langlois S (1997) Maternal uniparental disomy for chromosome 14. Am J Hum Genet 61:Suppl:691
-
(1997)
Am J Hum Genet
, vol.61
, pp. 691
-
-
Desilets, V.A.1
Yong, S.L.2
Kalousek, D.K.3
Pantzar, T.J.4
Kwong, L.C.5
Siemens, C.6
Langlois, S.7
-
11
-
-
0036707796
-
Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient
-
Dupont JM, Cuisset L, Cartigny M, Le Tessier D, Vasseur C, Rabineau D, Jeanpierre M (2002) Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient. Am J Med Genet 111:405-408
-
(2002)
Am J Med Genet
, vol.111
, pp. 405-408
-
-
Dupont, J.M.1
Cuisset, L.2
Cartigny, M.3
Le Tessier, D.4
Vasseur, C.5
Rabineau, D.6
Jeanpierre, M.7
-
12
-
-
0030930299
-
Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy
-
Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB (1997) Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet 100:415-419
-
(1997)
Hum Genet
, vol.100
, pp. 415-419
-
-
Eggermann, T.1
Wollmann, H.A.2
Kuner, R.3
Eggermann, K.4
Enders, H.5
Kaiser, P.6
Ranke, M.B.7
-
13
-
-
27244438057
-
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome
-
9
-
Flori E, Girodon E, Samama B, Becmeur F, Viville B, Girard-Lemaire F, Doray B, Schluth C, Marcellin L, Boehm N, Goossens M, Pingault V (2005) Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome. Eur J Hum Genet 13(9):1013-1018
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1013-1018
-
-
Flori, E.1
Girodon, E.2
Samama, B.3
Becmeur, F.4
Viville, B.5
Girard-Lemaire, F.6
Doray, B.7
Schluth, C.8
Marcellin, L.9
Boehm, N.10
Goossens, M.11
Pingault, V.12
-
14
-
-
0033504298
-
Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty
-
Fokstuen S, Ginsburg C, Zachmann M, Schinzel A (1999) Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty. J Pediatr 134:689-695
-
(1999)
J Pediatr
, vol.134
, pp. 689-695
-
-
Fokstuen, S.1
Ginsburg, C.2
Zachmann, M.3
Schinzel, A.4
-
15
-
-
23944435854
-
Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7
-
8
-
Font-Montgomery E, Stone KM, Weaver DD, Vance GH, Das S, Thurston VC (2005) Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. Birth Defects Res A Clin Mol Teratol 73(8):577-582
-
(2005)
Birth Defects Res a Clin Mol Teratol
, vol.73
, pp. 577-582
-
-
Font-Montgomery, E.1
Stone, K.M.2
Weaver, D.D.3
Vance, G.H.4
Das, S.5
Thurston, V.C.6
-
16
-
-
0036181136
-
Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause
-
Hannula K, Lipsanen-Nyman M, Kristo P, Kaitila I, Simola KO, Lenko HL, Tapanainen P, Holmberg C, Kere J (2002) Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause. Pediatrics 109:441-448
-
(2002)
Pediatrics
, vol.109
, pp. 441-448
-
-
Hannula, K.1
Lipsanen-Nyman, M.2
Kristo, P.3
Kaitila, I.4
Simola, K.O.5
Lenko, H.L.6
Tapanainen, P.7
Holmberg, C.8
Kere, J.9
-
17
-
-
0028228209
-
Distinct phenotype in maternal uniparental disomy of chromosome 14
-
Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J (1994) Distinct phenotype in maternal uniparental disomy of chromosome 14. Am J Med Genet 51:147-149
-
(1994)
Am J Med Genet
, vol.51
, pp. 147-149
-
-
Healey, S.1
Powell, F.2
Battersby, M.3
Chenevix-Trench, G.4
McGill, J.5
-
18
-
-
0034061155
-
Silver-Russell syndrome and cystic fibrosis associated with uniparental disomy 7
-
Hehr U, Dörr S, Hagemann M, Hansmann I, Preiss U, Brömme S (2000) Silver-Russell syndrome and cystic fibrosis associated with uniparental disomy 7. Am J Med Genet 91:237-239
-
(2000)
Am J Med Genet
, vol.91
, pp. 237-239
-
-
Hehr, U.1
Dörr, S.2
Hagemann, M.3
Hansmann, I.4
Preiss, U.5
Brömme, S.6
-
19
-
-
0032850551
-
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
-
Hordijk R, Wierenga H, Scheffer H, Leegte B, Hofstra RMW, Stolte-Dijkstra I (1999) Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype. J Med Genet 36:782-785
-
(1999)
J Med Genet
, vol.36
, pp. 782-785
-
-
Hordijk, R.1
Wierenga, H.2
Scheffer, H.3
Leegte, B.4
Hofstra, R.M.W.5
Stolte-Dijkstra, I.6
-
20
-
-
4243322681
-
Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus
-
Kayashima T, Katahira M, Harada N, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Nakamura Y, Kajii T, Niikawa N, Kishino T (2002) Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus. Am J Med Genet 111:38-42
-
(2002)
Am J Med Genet
, vol.111
, pp. 38-42
-
-
Kayashima, T.1
Katahira, M.2
Harada, N.3
Miwa, N.4
Ohta, T.5
Yoshiura, K.6
Matsumoto, N.7
Nakane, Y.8
Nakamura, Y.9
Kajii, T.10
Niikawa, N.11
Kishino, T.12
-
21
-
-
22144446038
-
Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated
-
Kotzot D, Utermann G (2005) Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. Am J Med Genet 136A:287-305
-
(2005)
Am J Med Genet
, vol.136
, pp. 287-305
-
-
Kotzot, D.1
Utermann, G.2
-
22
-
-
0034113750
-
Maternal uniparental disomy 7 - Review and further delineation of the phenotype
-
Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BCJ, Ilyina H, Krajewska-Walasek M, Otten BJ, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A (2000) Maternal uniparental disomy 7 - review and further delineation of the phenotype. Europ J Pediatr 159:247-256
-
(2000)
Europ J Pediatr
, vol.159
, pp. 247-256
-
-
Kotzot, D.1
Balmer, D.2
Baumer, A.3
Chrzanowska, K.4
Hamel, B.C.J.5
Ilyina, H.6
Krajewska-Walasek, M.7
Otten, B.J.8
Lurie, I.W.9
Otten, B.J.10
Schoenle, E.11
Tariverdian, G.12
Schinzel, A.13
-
23
-
-
0028867372
-
Prenatal and postnatal failure associated with maternal heterodisomy for chromosome 7
-
Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK (1995) Prenatal and postnatal failure associated with maternal heterodisomy for chromosome 7. J Med Genet 32:871-875
-
(1995)
J Med Genet
, vol.32
, pp. 871-875
-
-
Langlois, S.1
Yong, S.L.2
Wilson, R.D.3
Kwong, L.C.4
Kalousek, D.K.5
-
25
-
-
0034053840
-
A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY
-
5
-
Manzoni M, Pramparo T, Stroppolo A, Chiaino F, Bosi E, Zuffardi O, Carrozzo R (2000) A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY. Clin Genet 57(5):406-408
-
(2000)
Clin Genet
, vol.57
, pp. 406-408
-
-
Manzoni, M.1
Pramparo, T.2
Stroppolo, A.3
Chiaino, F.4
Bosi, E.5
Zuffardi, O.6
Carrozzo, R.7
-
26
-
-
0034119613
-
Formation of uniparental disomy 7 delineated from new cases and a UPD 7 case after trisomy 7 rescue. Presentation of own results and review of the literature
-
Mergenthaler S, Wollmann HA, Burger B, Eggermann K, Kaiser P, Ranke MB, Schwanitz G, Eggermann T (2000) Formation of uniparental disomy 7 delineated from new cases and a UPD 7 case after trisomy 7 rescue. Presentation of own results and review of the literature. Ann Genet 43:15-21
-
(2000)
Ann Genet
, vol.43
, pp. 15-21
-
-
Mergenthaler, S.1
Wollmann, H.A.2
Burger, B.3
Eggermann, K.4
Kaiser, P.5
Ranke, M.B.6
Schwanitz, G.7
Eggermann, T.8
-
27
-
-
33749520007
-
Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR
-
Mitter D, Buiting K, Eggeling Fv, Kuechler A, Liehr Th, Mau-Holzmann UA, Prott E-Ch, Wieczorek D, Gillessen-Kaesbach G (2006) Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. Am J Med Genet 140A:2039-2049
-
(2006)
Am J Med Genet
, vol.140
, pp. 2039-2049
-
-
Mitter, D.1
Buiting, K.2
Eggeling, F.3
Kuechler, A.4
Th, L.5
Mau-Holzmann, U.A.6
Wieczorek, D.7
Gillessen-Kaesbach, G.8
-
28
-
-
12744253343
-
Intrauterine growth restriction-genetic causes and consequences
-
Monk D, Moore GE (2004) Intrauterine growth restriction-genetic causes and consequences. Semin Fetal Neonatal Med 9:371-378
-
(2004)
Semin Fetal Neonatal Med
, vol.9
, pp. 371-378
-
-
Monk, D.1
Moore, G.E.2
-
29
-
-
32644473611
-
Maternal UPD 7 in the case of cystic fibrosis
-
Suppl 1
-
Obersztyn E, Helias-Rodzewicz Z, Sobcynska-Tomaszewska, Bocian E, Mazurczak T (2002) Maternal UPD 7 in the case of cystic fibrosis. Eur J Hum Genet 10:Suppl 1:P0286
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 0286
-
-
Obersztyn, E.1
Helias-Rodzewicz, Z.2
Sobcynska-Tomaszewska3
Bocian, E.4
Mazurczak, T.5
-
30
-
-
4344574396
-
Clinical/molecular studies of UPD14 and a diagnostic reversal
-
4:Suppl
-
Papenhausen P, Wylie A, ShahH, Ranells J, Kousseff B, Gadi I (2002) Clinical/molecular studies of UPD14 and a diagnostic reversal. Am J Hum Genet 69:4:Suppl:760
-
(2002)
Am J Hum Genet
, vol.69
, pp. 760
-
-
Papenhausen, P.1
Wylie, A.2
Ranells, J.3
Kousseff, B.4
Gadi, I.5
-
31
-
-
0026574487
-
Maternal uniparental isodisomy of chromosome 14: Association with autosomal recessive rod monochromacy
-
Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR (1992) Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet 50:690-699
-
(1992)
Am J Hum Genet
, vol.50
, pp. 690-699
-
-
Pentao, L.1
Lewis, R.A.2
Ledbetter, D.H.3
Patel, P.I.4
Lupski, J.R.5
-
32
-
-
0033710341
-
Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7
-
Potgieter S, Matthijs G, De Cock P, Fryns J-P (2000) Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7. Europ J Pediatr 159:929
-
(2000)
Europ J Pediatr
, vol.159
, pp. 929
-
-
Potgieter, S.1
Matthijs, G.2
De Cock, P.3
Fryns, J.-P.4
-
33
-
-
0033042181
-
An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands
-
Preece MA, Abu-Amero SN, Ali Z, Abu-Amero KK, Wakeling EL, Stanier P (1999) An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands. J Med Genet 36:457-460
-
(1999)
J Med Genet
, vol.36
, pp. 457-460
-
-
Preece, M.A.1
Abu-Amero, S.N.2
Ali, Z.3
Abu-Amero, K.K.4
Wakeling, E.L.5
Stanier, P.6
-
34
-
-
0028147431
-
A somatic origin of homologous Robertsonian translocations and isochromosomes
-
Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LMS, Lüleci G, Schinzel A (1994) A somatic origin of homologous Robertsonian translocations and isochromosomes. Am J Hum Genet 54:290-302
-
(1994)
Am J Hum Genet
, vol.54
, pp. 290-302
-
-
Robinson, W.P.1
Bernasconi, F.2
Basaran, S.3
Yüksel-Apak, M.4
Neri, G.5
Serville, F.6
Balicek, P.7
Haluza, R.8
Farah, L.M.S.9
Lüleci, G.10
Schinzel, A.11
-
35
-
-
10844293482
-
Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations
-
Ruggeri A, Dulcetti F, Miozzo M, Grati FR, Grimi B, Bellato S, Natacci F, Maggi F, Simoni G (2004) Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations. Prenat Diagn 24:997-1000
-
(2004)
Prenat Diagn
, vol.24
, pp. 997-1000
-
-
Ruggeri, A.1
Dulcetti, F.2
Miozzo, M.3
Grati, F.R.4
Grimi, B.5
Bellato, S.6
Natacci, F.7
Maggi, F.8
Simoni, G.9
-
36
-
-
0033935846
-
Maternal chromosome 7 hetero/isodisomy in Silver Russell syndrome and PEG1 biallelic expression
-
Russo S, Bedeschi MF, Cogliati F, Natacci F, Gianotti A, Parini R, Selicorni A, Larizza L (2000) Maternal chromosome 7 hetero/isodisomy in Silver Russell syndrome and PEG1 biallelic expression. Clin Dysmorph 9:157-162
-
(2000)
Clin Dysmorph
, vol.9
, pp. 157-162
-
-
Russo, S.1
Bedeschi, M.F.2
Cogliati, F.3
Natacci, F.4
Gianotti, A.5
Parini, R.6
Selicorni, A.7
Larizza, L.8
-
37
-
-
0033922327
-
Maternal uniparental heterodisomy of chromosome 14: Chromosomal mechanism and clinical follow up
-
Sanlaville D, Aubry MC, Dumez Y, Nolen MC, Amiel J, Pinson MP, Lyonnet S, Munnich A, Vekemans M, Morichon-Delvallez N (2000) Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up. J Med Genet 37:525-528
-
(2000)
J Med Genet
, vol.37
, pp. 525-528
-
-
Sanlaville, D.1
Aubry, M.C.2
Dumez, Y.3
Nolen, M.C.4
Amiel, J.5
Pinson, M.P.6
Lyonnet, S.7
Munnich, A.8
Vekemans, M.9
Morichon-Delvallez, N.10
-
38
-
-
4243050541
-
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: An Italian multicentric prenatal survey
-
Sensi A, Cavani S, Villa N, Pomponi MG, Fogli A, Gualandi F, Grasso M, Sala E, Pietrobono R, Baldinotti F, Savin E, Ferlini A, Cecconi M, Rossi S, Gallone S, Bellini C, Neri G, Martinoli E, Simi P, Dalpra L, Genuardi M, Dagna-Bricarelli F, Calzolari E (2004) Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey. Prenat Diagn 24:647-652
-
(2004)
Prenat Diagn
, vol.24
, pp. 647-652
-
-
Sensi, A.1
Cavani, S.2
Villa, N.3
Pomponi, M.G.4
Fogli, A.5
Gualandi, F.6
Grasso, M.7
Sala, E.8
Pietrobono, R.9
Baldinotti, F.10
Savin, E.11
Ferlini, A.12
Cecconi, M.13
Rossi, S.14
Gallone, S.15
Bellini, C.16
Neri, G.17
Martinoli, E.18
Simi, P.19
Dalpra, L.20
Genuardi, M.21
Dagna-Bricarelli, F.22
Calzolari, E.23
more..
-
39
-
-
0023897290
-
Uniparental disomy as a mechanism for human genetic disease
-
Spence JE, Perciaccante RG, Greig GM, Huntington FW, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL (1988) Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42:217-226
-
(1988)
Am J Hum Genet
, vol.42
, pp. 217-226
-
-
Spence, J.E.1
Perciaccante, R.G.2
Greig, G.M.3
Huntington, F.W.4
Ledbetter, D.H.5
Hejtmancik, J.F.6
Pollack, M.S.7
O'Brien, W.E.8
Beaudet, A.L.9
-
40
-
-
0031576246
-
Another case of maternal uniparental disomy chromosome 14 syndrome
-
Splitt MP, Goodship JA (1997) Another case of maternal uniparental disomy chromosome 14 syndrome. Am J Med Genet 72:239-240
-
(1997)
Am J Med Genet
, vol.72
, pp. 239-240
-
-
Splitt, M.P.1
Goodship, J.A.2
-
41
-
-
0026749549
-
Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLlA2 locus
-
Spotila LD, Sereda L, Prockop DJ (1992) Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLlA2 locus. Am J Hum Genet 51:1396-1405
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1396-1405
-
-
Spotila, L.D.1
Sereda, L.2
Prockop, D.J.3
-
42
-
-
29144532269
-
Long-acting gonadotropin-releasing hormone analogue treatment for central precocious puberty in maternal uniparental disomy chromosome 14
-
4
-
Takahashi I, Takahashi T, Utsunomiya M, Takada G, Koizumi A (2005) Long-acting gonadotropin-releasing hormone analogue treatment for central precocious puberty in maternal uniparental disomy chromosome 14. Tohoku J Exp Med 207(4):333-338
-
(2005)
Tohoku J Exp Med
, vol.207
, pp. 333-338
-
-
Takahashi, I.1
Takahashi, T.2
Utsunomiya, M.3
Takada, G.4
Koizumi, A.5
-
43
-
-
0013954612
-
Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965 I
-
Tanner JM, Whitehouse RH, Takaishi M (1966) Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965 I. Arch Dis Child 41:454-471
-
(1966)
Arch Dis Child
, vol.41
, pp. 454-471
-
-
Tanner, J.M.1
Whitehouse, R.H.2
Takaishi, M.3
-
44
-
-
0013977629
-
Standards from birth to maturity for height, weight, height velocity and weight velocity: British children, 1965 II
-
Tanner JM, Whitehouse RH, Takaishi M (1996) Standards from birth to maturity for height, weight, height velocity and weight velocity: British children, 1965 II. Arch Dis Child 41:613-635
-
(1996)
Arch Dis Child
, vol.41
, pp. 613-635
-
-
Tanner, J.M.1
Whitehouse, R.H.2
Takaishi, M.3
-
45
-
-
0025866731
-
Maternal uniparental disomy for chromosome 14
-
Temple IK, Cockwwell A, Hassold T, Pettay D, Jacobs P (1991) Maternal uniparental disomy for chromosome 14. J Med Genet 28:511-514
-
(1991)
J Med Genet
, vol.28
, pp. 511-514
-
-
Temple, I.K.1
Cockwwell, A.2
Hassold, T.3
Pettay, D.4
Jacobs, P.5
-
46
-
-
0030016132
-
Maternal uniparental isodisomy of chromosome 14 associated with a paternal t(13q14q) and precocious puberty
-
3
-
Tomkins DJ, Roux AF, Waye J, Freeman VC, Cox DW, Whelan DT (1996) Maternal uniparental isodisomy of chromosome 14 associated with a paternal t(13q14q) and precocious puberty. Eur J Hum Genet 4(3):153-159
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 153-159
-
-
Tomkins, D.J.1
Roux, A.F.2
Waye, J.3
Freeman, V.C.4
Cox, D.W.5
Whelan, D.T.6
-
47
-
-
0034992754
-
Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction
-
Towner DR, Shaffer LG, Yang SP, Walgenbach DD (2001) Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction. Prenat Diagn 21:395-398
-
(2001)
Prenat Diagn
, vol.21
, pp. 395-398
-
-
Towner, D.R.1
Shaffer, L.G.2
Yang, S.P.3
Walgenbach, D.D.4
-
48
-
-
0024463137
-
Isodisomy for chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans?
-
Voss R, Ben-Simon E, Avital A, Godrey S, Zlotogora J, Dagan J, Tikochinski Y, Hillel J (1989) Isodisomy for chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet 45:373-380
-
(1989)
Am J Hum Genet
, vol.45
, pp. 373-380
-
-
Voss, R.1
Ben-Simon, E.2
Avital, A.3
Godrey, S.4
Zlotogora, J.5
Dagan, J.6
Tikochinski, Y.7
Hillel, J.8
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